The Hughes Family

Learn about Daniel's Syndrome

About Phelan McDermid Syndrome

The syndrome is also referred to as 22Q13.33 Microdeletion syndrome.  Today there are about Eleven hundred individuals in the world with this chromosome deletion. The condition is named for Dr. Katy Phelan and Dr. Heather McDermid who first identified the condition in 1998.  Dr. Katy Phelan brought the original first fifteen families together into what is now The Phelan-McDermid Syndrome Foundation. The last meeting had about 100 families in attendance.

Daniel was diagnosed through the use of micro-array comparative genomic hybridization (CGH), which is also used to identify the loss or gain of chromosome material. It is more sensitive than FISH in detecting loss of very small regions of the chromosome and can examine all of the chromosomes at once, rather than targeting only chromosome 22.

So What is Phelan-McDermid Syndrome?

Phelan-McDermid Syndrome, is a genetic condition which meant a piece on chromosome 22, long arm (q), region 1, band three, sub-band three did not exist or had been compromised. Specifically in Daniel’s case, the abnormality is characterized by a copy loss of ’13 oligonucleotide probe(s) in the region of 22q13.33.  This abnormality is estimated to be a minimum size of 93.89 kb and a maximum size of 127.59 kb due to gaps in the regions represented on the microarray.  Daniel’s abnormality has been classified as an interstitial deletion.

So What are the characteristics?

Some of the most common characteristics in those diagnosed include: Ptosis (droopy eyelid), a pointed chin, prominent poorly formed ears, long eyelashes, puffy hands, thin flaky toenails, wide nasal bridge, hypotonia (poor muscle tone), tendency to oveheat, and  lack of perspiration. There is moderate to severe mental retardation associated with PMS. Behavioral characteristics include chewing on non food items (clothing, bedding, toys) – teeth grinding, tongue thrusting, hair pulling, aversion to clothes, decreased perception of pain and anxiety in social situations.  Many children fall somewhere in the autism spectrum. Some medical issues include seizures, chronic diarrhea, macrocephaly, reactive airway disease (asthma). Very few of the children have speech or toilet training skills. Of individuals studied with 22q13 Deletion Syndrome, we know that 100 percent have global developmental delay and nearly 100 percent have absent or severely delayed speech. There are moderate to profound delays in all areas and significant delays in speech. Physical issues such as immature muscles, hypotonia, and visual perception cause some delays. Other delays seem to have more to do with neurological issues such as nerve control or mental processing time. Still other delays appear to be caused by physical and neurological problems.

So how is Daniel effected?

We are very fortunate that Daniel's condition is very mild compared to many who suffer from this syndrome.  Daniel speaks where most do not.  Daniel is a social, loving, well adjusted young man. He loves to play sports, fish, sing, play with friends, and help people.  If you notice anything at all about Daniel, you will notice that he has some issues with speech and may act younger than his age.  

Are there any special considerations Daniel should be given?

We have been blessed with a tremendous support system that cares for and wants to see Daniel Succeed.  Daniel does not need special considerations, necessarily.  What we would ask for is your patience.  Please join with us to help develop Daniel’s character and give him the best future possible.

  • Daniel will act younger than his age.  Daniel’s birth age and his cognitive age are growing further apart in some aspects. While we want to challenge Daniel to grow, we also want to be realistic with our expectations.
  • Daniel may become argumentative over things he perceives as “fact.”  
  • Here are some things to consider if you work closely with Daniel:
    • Keep in mind that when you tell Daniel something, he will take it as absolute truth. 
    • Daniel will not respond to reason in a lot of these situations.  If you say, “we will do it next week, Daniel.”  He simply doesn’t hear it.  He just will not respond to this kind of reason.
    • Establish authority.  Daniel responds to authority.  “Daniel, I am the adult.  You need to listen to what I am saying.”
    • Daniel tends to have heightened anxiety in situations where “change” is evident or in a situation he is unfamiliar with.  He will sometimes just look “sad.”  This could be due to something not going the way he thinks it should, or just being in overload from too much activity.  (ie., Daniel loves to go to a neighbor’s house to play.  We may tell him when he asks that “now is not a good time.”  This just might ruin the rest of his day! 
    • Daniel does not perspire properly.  We have noticed in the past that Daniel will get very red when playing outdoors or sporting events.  We need to keep watch on Daniel in these settings.  Several children with PMS have suffered from heat related issues due to overexposure.
    • Daniel is sensitive to temperatures.  Daniel may tell you he is cold and put on his jacket in your house!  He also may get hot easily.  Just be aware this is part of his behavior.  Please don’t make special considerations for this.
    • Daniel loves to be a helper.  If you are doing a task where he can help, please ask him.  It lights up his soul to help someone. 
    • Daniel loves to be a part of activities he’s involved in.  Daniel knows it is harder for him to read than most others.  Please do not skip him if going around a room asking children to read just because he struggles.  This does not embarrass him.  He wants to do like the others.  Perhaps a much shorter segment or an easier segment, but please try to include him.  You will not embarrass him in this setting. He knows he has limitations.
    • Daniel has extremely high pain tolerance.  This is something of which we need to be aware.  Daniel MAY have a serious injury and just not perceive the pain.  However, Daniel may get hit by a child and act as if he is dying!  This is a “feelings” injury and WILL elicit a dramatic response.  Do not allow this to become confused with an actual injury. 
    • Daniel seems to have diarrhea quite often.  Do not be disturbed if Daniel (especially early in the morning) has diarrhea.  He is not sick, this is one of the effects of PMS. One indicator of illness MAY be if Daniel were to have an accident.  Daniel does not typically have “accidents” unless he is sick. 
    • Daniel tends to chew on things.  Please join with us in telling him to STOP!

More than any of these considerations we ask that you would treat Daniel as normal as possible.  Please don’t avoid him or choose to not involve him because of his condition.  Daniel wants to be a friend to every kid he’s ever met and a helper to every adult!  Please continue to help us develop Daniel’s character, enhance his social skills, and help him grow in “wisdom and stature.”

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